Molecular bases of metachromatic leukodystrophy in Polish patients
Molecular bases of metachromatic leukodystrophy in Polish patients
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DOI：
10.1038/jhg.2010.25
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发表时间：
2010-06-01
影响因子：
3.5
通讯作者：
Tylki-Szymanska, Anna
中科院分区：
文献类型：
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作者：
Lugowska, Agnieszka;Ploski, Rafal;Tylki-Szymanska, Anna
我们对 43 名患有不同类型异染性脑白质营养不良 (MLD) 的无关波兰患者进行的初步研究表明，ARSA 基因中的 4 个突变占突变等位基因的 55%（c.459+1G>A、p.P426L、p.I179S 和 c.1204+1G>A）。随后，我们报告了另外 6 个突变，合计占突变等位基因的 10%。对具有未识别等位基因的波兰 MLD 患者 DNA 样本进行的 ARSA 基因的进一步序列分析显示，10 个等位基因上有 8 个罕见突变：p.R390W、p.E382K、p.R390Q、p.R288C、p.H397Y、p.F247S、p.D335V 和 g.561_562insC，合计占所检查的 12%等位基因。我们尚未发现 ARSA 基因出现任何频繁突变，而这对于波兰患者来说是典型或独特的。在本报告中，我们描述了这项研究的结果，并总结了这项研究和我们之前的研究结果。人类遗传学杂志 (2010) 55, 394-396; doi：10.1038/jhg.2010.25； 2010 年 3 月 26 日在线发布
Our preliminary studies on 43 unrelated Polish patients suffering from different types of metachromatic leukodystrophy (MLD) showed that four mutations in the ARSA gene accounted for 55% of mutated alleles (c.459+1G>A, p.P426L, p. I179S and c.1204+1G>A). Subsequently, we reported six additional mutations jointly accounting for 10% of mutated alleles. Further sequence analysis of the ARSA gene performed on DNA samples of Polish MLD patients with unidentified alleles revealed eight rare mutations on 10 alleles: p.R390W, p.E382K, p.R390Q, p.R288C, p.H397Y, p.F247S, p.D335V and g.561_562insC, responsible together for 12% of the examined alleles. We have not identified any frequent mutation in the ARSA gene, which would be typical or unique for Polish patients. In this report, we describe the results of this and summarize the results of this and our previous studies. Journal of Human Genetics (2010) 55, 394-396; doi:10.1038/jhg.2010.25; published online 26 March 2010